JP2019514387A5 - - Google Patents
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- JP2019514387A5 JP2019514387A5 JP2018556973A JP2018556973A JP2019514387A5 JP 2019514387 A5 JP2019514387 A5 JP 2019514387A5 JP 2018556973 A JP2018556973 A JP 2018556973A JP 2018556973 A JP2018556973 A JP 2018556973A JP 2019514387 A5 JP2019514387 A5 JP 2019514387A5
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- 150000007523 nucleic acids Chemical class 0.000 claims 31
- 108020004707 nucleic acids Proteins 0.000 claims 31
- 238000004166 bioassay Methods 0.000 claims 19
- 239000000523 sample Substances 0.000 claims 18
- 230000001605 fetal Effects 0.000 claims 16
- 210000003754 Fetus Anatomy 0.000 claims 12
- 238000003752 polymerase chain reaction Methods 0.000 claims 11
- 230000003321 amplification Effects 0.000 claims 9
- 239000000203 mixture Substances 0.000 claims 9
- 238000003199 nucleic acid amplification method Methods 0.000 claims 9
- 210000004369 Blood Anatomy 0.000 claims 1
- 206010016855 Foetal distress syndrome Diseases 0.000 claims 1
- 210000002381 Plasma Anatomy 0.000 claims 1
- 210000002966 Serum Anatomy 0.000 claims 1
- 239000008280 blood Substances 0.000 claims 1
- 229920003013 deoxyribonucleic acid Polymers 0.000 claims 1
- 238000007847 digital PCR Methods 0.000 claims 1
- 230000000694 effects Effects 0.000 claims 1
- 230000032686 female pregnancy Effects 0.000 claims 1
- 239000007850 fluorescent dye Substances 0.000 claims 1
- 230000035935 pregnancy Effects 0.000 claims 1
- 238000003753 real-time PCR Methods 0.000 claims 1
- 230000036266 weeks of gestation Effects 0.000 claims 1
Claims (20)
複数の一塩基バリアント(SNV)標的のそれぞれについて、試料またはその一部に対して、少なくとも2つのプライマー対を用いたポリメラーゼ連鎖反応(PCR)定量アッセイなどの増幅に基づく定量アッセイを実施すること、ここで各プライマー対はフォワードプライマーおよびリバースプライマーを含み、少なくとも2つのプライマー対の1つは、プライマーにおいてSNV標的の1つのアレルに対して3’末端から2番目のミスマッチを、しかしSNV標的の別のアレルに対しては3’二重ミスマッチを含み、かつSNV標的の1つのアレルを特異的に増幅し、少なくとも2つのプライマー対のもう1つは、SNV標的の別のアレルを特異的に増幅する、および、
PCR定量アッセイなどの増幅に基づく定量アッセイからの結果を得るかまたは提供して、試料中の胎児特異的核酸の量を決定すること、
を含み、
任意に、方法がさらに、試料中の胎児特異的核酸の量を、結果に基づいて決定することを含む、または、結果が、試料中の胎児特異的核酸の量を含む、
前記方法。 A method of assessing the amount of fetus-specific nucleic acid in a sample from a pregnant subject, wherein the sample comprises the fetus-specific nucleic acid and the nucleic acid of interest, the method comprising:
Performing an amplification-based quantitative assay, such as a polymerase chain reaction (PCR) quantitative assay with at least two primer pairs, on a sample or a portion thereof for each of a plurality of single base variant (SNV) targets, Where each primer pair comprises a forward primer and a reverse primer, and one of the at least two primer pairs has a second mismatch from the 3′ end to one allele of the SNV target in the primer, but a different mismatch of the SNV target. Contains a 3'double mismatch and specifically amplifies one allele of the SNV target and the other of the at least two primer pairs specifically amplifies another allele of the SNV target. And
Obtaining or providing results from an amplification-based quantitative assay, such as a PCR quantitative assay, to determine the amount of fetal-specific nucleic acid in a sample,
Including,
Optionally, the method further comprises determining the amount of fetal-specific nucleic acid in the sample based on the result, or the result comprises the amount of fetal-specific nucleic acid in the sample,
The method.
複数の一塩基バリアント(SNV)標的のそれぞれについて、試料またはその一部に対して実施した、ポリメラーゼ連鎖反応(PCR)定量アッセイなどの増幅に基づく定量アッセイからの結果を得ること、ここで少なくとも2つのプライマー対を用い、各プライマー対はフォワードプライマーおよびリバースプライマーを含み、少なくとも2つのプライマー対の1つは、プライマーにおいてSNV標的の1つのアレルに対して3’末端から2番目のミスマッチを、しかしSNV標的の別のアレルに対しては3’二重ミスマッチを含み、かつSNV標的の1つのアレルを特異的に増幅し、少なくとも2つのプライマー対のもう1つは、SNV標的の別のアレルを特異的に増幅する、および、
胎児特異的核酸の量を、結果に基づいて評価すること、
を含み、
任意に、試料中の胎児特異的核酸の量が、PCR定量アッセイなどの増幅に基づく定量アッセイの結果に基づく、
前記方法。 A method of assessing the amount of fetus-specific nucleic acid in a sample from a pregnant subject, wherein the sample comprises the fetus-specific nucleic acid and the nucleic acid of interest, the method comprising:
Obtaining results from an amplification-based quantitative assay, such as a polymerase chain reaction (PCR) quantitative assay, performed on a sample or a portion thereof for each of a plurality of single base variant (SNV) targets, wherein at least 2 Two primer pairs were used, each primer pair including a forward primer and a reverse primer, one of the at least two primer pairs having a second mismatch from the 3'end to one allele of the SNV target in the primers, but A 3'double mismatch to another allele of the SNV target and specifically amplifies one allele of the SNV target, the other of the at least two primer pairs containing the other allele of the SNV target. Specifically amplify, and
Evaluating the amount of fetal-specific nucleic acid based on the results,
Including,
Optionally, the amount of fetal-specific nucleic acid in the sample is based on the results of an amplification-based quantitative assay, such as a PCR quantitative assay,
The method.
量が、全核酸に対する胎児特異的核酸の比率またはパーセンテージである、
請求項1または2に記載の方法。 Another primer pair of at least two primer pairs also has a second mismatch from the 3'end to another allele of the SNV target in the primer, but a 3'duplex to one allele of the SNV target. Comprising a mismatch and specifically amplifying another allele of the SNV target, and/or the amount is a ratio or percentage of fetal-specific nucleic acids to total nucleic acids,
The method according to claim 1 or 2.
任意に、量が、PCR定量アッセイなどの増幅に基づく定量アッセイの情報提供的結果に基づいている、および/または、方法がさらに、PCR定量アッセイなどの増幅に基づく定量アッセイの情報提供的結果を選択することを含む、任意に、選択された情報提供的結果が平均化されている、および/または、PCR定量アッセイなどの増幅に基づく定量アッセイの情報提供的結果が、胎児特異的核酸および/または対象核酸の遺伝子型(または親の遺伝子型)に基づいて選択される、
請求項1〜3のいずれか一項に記載の方法。 The results are informative results of amplification-based quantitative assays such as PCR quantitative assays,
Optionally, the amount is based on the informative result of an amplification-based quantitative assay, such as a PCR quantitative assay, and/or the method further comprises an informative result of an amplification-based quantitative assay, such as a PCR quantitative assay. Optionally, the selected informative results are averaged, and/or the informative results of an amplification-based quantitative assay, such as a PCR quantitative assay, are fetal-specific nucleic acid and/or Or selected based on the genotype (or parental genotype) of the nucleic acid of interest,
The method according to any one of claims 1 to 3.
(i)胎児特異的核酸および/または対象核酸の遺伝子型(または親の遺伝子型)を得ること;
(ii)複数のSNV標的を得ること;および/または
(iii)複数のSNV標的のそれぞれについて少なくとも2つのプライマー対を得ること
を含む、請求項1〜4のいずれか一項に記載の方法。 The method is more
(I) obtaining the genotype (or parental genotype) of the fetus-specific nucleic acid and/or the nucleic acid of interest;
5. A method according to any one of claims 1 to 4, comprising (ii) obtaining a plurality of SNV targets; and/or (iii) obtaining at least two primer pairs for each of a plurality of SNV targets.
複数のSNV標的が情報提供的標的であり、複数のSNVの情報提供的標的が、少なくとも6、7、8、9、10、11、12、13、14、15、16、17、18、19、20、21、22、23、24、25、26、27、28、29、30、31または32のSNVの情報提供的標的である、任意に、複数のSNVの情報提供的標的が、34、33、32、31または30未満のSNVの情報提供的標的である、または、複数のSNVの情報提供的標的が、25未満のSNVの情報提供的標的である、
請求項1〜5のいずれか一項に記載の方法。 The plurality of SNV targets is at least 18, 21, 24, 27, 30, 33, 36, 39, 42, 45, 48, 51, 54, 57, 60, 63, 66, 69, 72, 75, 78, 81. , 84, 87, 90, 93 or 96 SNV targets, optionally wherein the plurality of SNV targets is less than 100, 99, 98, 97, 96, 95, 94, 93, 92, 91 or 90 SNV targets. Or the plurality of SNV targets is less than 75 SNV targets, or
The plurality of SNV targets are informative targets, and the plurality of SNV targets are at least 6,7,8,9,10,11,12,13,14,15,16,17,18,19. , 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31 or 32 SNVs informative target, optionally, multiple SNV informative targets 34. , 33, 32, 31 or less than 30 SNV informative targets, or more than one SNV informative target is less than 25 SNV informative targets,
The method according to any one of claims 1 to 5.
(i)対象に対する処置を、胎児特異的核酸の量に基づき選択すること;
(ii)胎児特異的核酸の量に基づき対象を処置すること;
(iii)胎児特異的核酸の量に基づき、対象への処置に関する情報を提供すること;
(iv)対象における胎児特異的核酸の量を、経時的にモニタリングすることまたはモニタリングを示唆すること;
(v)対象における胎児特異的核酸の量を、その後の時点で評価すること;
(vi)対象に投与する処置の効果を、胎児特異的核酸の量に基づき評価すること;
(vii)試料またはその一部を提供するまたは取得すること;
(viii)核酸を試料から抽出すること;および/または
(ix)SNV標的に対するプライマーを使用する増幅前ステップ
を含む、請求項1〜10のいずれか一項に記載の方法。 The method is more
(I) selecting a treatment for the subject based on the amount of fetal-specific nucleic acid;
(Ii) treating the subject based on the amount of fetus-specific nucleic acid;
(Iii) providing information regarding treatment of the subject based on the amount of fetus-specific nucleic acid;
(Iv) monitoring or suggesting monitoring the amount of fetal-specific nucleic acid in the subject over time;
(V) assessing the amount of fetal-specific nucleic acid in the subject at a later time point;
(Vi) assessing the effect of treatment administered to the subject based on the amount of fetal-specific nucleic acid;
(Vii) providing or obtaining a sample or part thereof;
11. A method according to any one of claims 1 to 10, comprising (viii) extracting nucleic acid from the sample; and/or (ix) a pre-amplification step using primers for the SNV target.
少なくとも6つのSNVの情報提供的標的のそれぞれについてプライマー対を含み、ここで各プライマー対は、プライマーにおいてSNV標的の1つのアレルに対して3’末端から2番目のミスマッチを、しかしSNV標的の別のアレルに対しては3’二重ミスマッチを含み、かつSNV標的の1つのアレルを特異的に増幅する、
任意に、前記組成物またはキットは、少なくとも6つのSNVの情報提供的標的のそれぞれについて別のプライマー対をさらに含み、別のプライマー対は、SNV標的の別のアレルを特異的に増幅する、および/または、少なくとも6つのSNVの情報提供的標的は、少なくとも7、8、9、10、11、12、13、14、15、16、17、18、19、20、21、22、23、24、25、26、27、28、29、30、31または32のSNVの情報提供的標的である、任意に、少なくとも6つのSNVの情報提供的標的は、35、34、33、32、31、30、29、28、27、26または25未満のSNVの情報提供的標的である、
前記組成物またはキット。 A composition or kit comprising:
A primer pair is included for each of the at least 6 informative targets of the SNV, wherein each primer pair contains a second mismatch from the 3'end to one allele of the SNV target in the primer, but a different mismatch of the SNV target. Contains a 3'double mismatch for alleles of and specifically amplifies one allele of the SNV target,
Optionally, the composition or kit further comprises a separate primer pair for each of the at least 6 informative targets of the SNV, wherein the different primer pair specifically amplifies another allele of the SNV target, and /Or the informative target of at least 6 SNVs is at least 7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24. , 25, 26, 27, 28, 29, 30, 31 or 32 SNV informative targets, optionally at least 6 SNV informative targets are 35, 34, 33, 32, 31, Is an informative target of less than 30, 29, 28, 27, 26 or 25 SNVs,
The composition or kit.
少なくとも18のSNV標的のそれぞれについてプライマー対を含み、ここで各プライマー対は、プライマーにおいてSNV標的の1つのアレルに対して3’末端から2番目のミスマッチを、しかしSNV標的の別のアレルに対しては3’二重ミスマッチを含み、かつSNV標的の1つのアレルを特異的に増幅する、
任意に、少なくとも18のSNV標的のそれぞれについて別のプライマー対をさらに含み、ここで別のプライマー対が、SNV標的の別のアレルを特異的に増幅する、および/または、少なくとも18のSNV標的が、少なくとも21、24、27、30、33、36、39、42、45、48、51、54、57、60、63、66、69、71、75、80、85、90または95のSNV標的である、任意に、少なくとも18のSNV標的が、100、99、98、97、96、95、94、93、92、91または90未満のSNV標的である、または、少なくとも18のSNV標的が75未満のSNV標的である、
前記組成物またはキット。 A composition or kit comprising:
A primer pair is included for each of at least 18 SNV targets, wherein each primer pair contains a second mismatch from the 3'end to one allele of the SNV target in the primer, but to another allele of the SNV target. Contains a 3'double mismatch and specifically amplifies one allele of the SNV target,
Optionally, further comprising another primer pair for each of the at least 18 SNV targets, wherein the other primer pair specifically amplifies another allele of the SNV target and/or at least 18 SNV targets , At least 21, 24, 27, 30, 33, 36, 39, 42, 45, 48, 51, 54, 57, 60, 63, 66, 69, 71, 75, 80, 85, 90 or 95 SNV targets Optionally, at least 18 SNV targets are less than 100, 99, 98, 97, 96, 95, 94, 93, 92, 91 or 90 SNV targets, or at least 18 SNV targets are 75 Less than SNV target,
The composition or kit.
(ii)ポリメラーゼ
(iii)プローブ、任意に、蛍光プローブ、
(iv)使用説明書、任意に、使用説明書が、試料中の非天然核酸の量を決定するまたは評価するための説明書である、
をさらに含む、請求項14〜17のいずれか一項に記載の組成物またはキット。 (I) a buffer (ii) a polymerase (iii) probe, optionally a fluorescent probe,
(Iv) instructions, optionally instructions for determining or assessing the amount of unnatural nucleic acid in a sample,
The composition or kit according to any one of claims 14 to 17, further comprising:
請求項1〜13のいずれか一項に記載の方法に基づいて胎児特異的核酸の量を得ること、および
対象または胎児におけるリスクを、量に基づいて評価すること、
任意に、処置または処置もしくは無処置に関する情報が、評価されたリスクに基づいて対象について選択されるかまたは対象に提供される;および/または、方法がさらに、対象における胎児特異的核酸の量を経時的にモニタリングすること、またはモニタリングを示唆することを含み、任意に、対象が、妊娠期間10週以降の間の1以上の時点でモニタリングされる、
前記方法。
Method,
Obtaining an amount of a fetus-specific nucleic acid based on the method according to any one of claims 1 to 13, and evaluating a risk in a subject or a fetus based on the amount.
Optionally, information regarding treatment or treatment or no treatment is selected for or provided to the subject based on the assessed risk; and/or the method further determines the amount of fetal-specific nucleic acid in the subject. Optionally monitoring, or suggesting monitoring, wherein the subject is optionally monitored at one or more time points during the 10th gestation period and beyond,
The method.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201662330044P | 2016-04-29 | 2016-04-29 | |
US62/330,044 | 2016-04-29 | ||
PCT/US2017/030292 WO2017190105A1 (en) | 2016-04-29 | 2017-04-29 | Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing fetal well being |
Publications (2)
Publication Number | Publication Date |
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JP2019514387A JP2019514387A (en) | 2019-06-06 |
JP2019514387A5 true JP2019514387A5 (en) | 2020-06-18 |
Family
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Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
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JP2018556973A Pending JP2019514387A (en) | 2016-04-29 | 2017-04-29 | Multiplexed / optimized mismatch amplification (MOMA) -real-time PCR to assess fetal health |
Country Status (11)
Country | Link |
---|---|
US (1) | US20190153525A1 (en) |
EP (1) | EP3449018A4 (en) |
JP (1) | JP2019514387A (en) |
CN (1) | CN109661476A (en) |
AU (1) | AU2017258800A1 (en) |
BR (1) | BR112018072197A2 (en) |
CA (1) | CA3022548A1 (en) |
EA (1) | EA201892490A1 (en) |
IL (1) | IL262641A (en) |
MX (1) | MX2018013261A (en) |
WO (1) | WO2017190105A1 (en) |
Families Citing this family (8)
Publication number | Priority date | Publication date | Assignee | Title |
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US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
CN103608818B (en) | 2011-02-09 | 2017-12-08 | 纳特拉公司 | The antenatal ploidy identification device of Noninvasive |
WO2016183106A1 (en) | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
US20190360033A1 (en) * | 2016-11-02 | 2019-11-28 | The Medical College Of Wisconsin, Inc. | Methods for assessing risk using mismatch amplification and statistical methods |
WO2018085603A1 (en) * | 2016-11-02 | 2018-05-11 | Medical College Of Wisconsin, Inc. | Methods for assessing risk using total and specific cell-free dna |
CN110945136A (en) | 2017-06-20 | 2020-03-31 | 威斯康星州立大学医学院 | Assessment of risk of transplantation complications using total cell-free DNA |
WO2019200228A1 (en) | 2018-04-14 | 2019-10-17 | Natera, Inc. | Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna |
US11931674B2 (en) | 2019-04-04 | 2024-03-19 | Natera, Inc. | Materials and methods for processing blood samples |
Family Cites Families (6)
Publication number | Priority date | Publication date | Assignee | Title |
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EP1599608A4 (en) * | 2003-03-05 | 2007-07-18 | Genetic Technologies Ltd | Identification of fetal dna and fetal cell markers in maternal plasma or serum |
DK2351858T3 (en) * | 2006-02-28 | 2015-04-07 | Univ Louisville Res Found | Detection of fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
UA115321C2 (en) * | 2011-12-16 | 2017-10-25 | Басф Агрокемікал Продактс Б.В. | Methods and compositions for analyzing ahasl genes in wheat |
WO2014143989A1 (en) * | 2013-03-15 | 2014-09-18 | Medical College Of Wisconsin, Inc. | Fetal well being surveillance using fetal specific cell free dna |
WO2015178978A2 (en) * | 2014-02-14 | 2015-11-26 | The Board Of Regents Of The University Of Texas System | Strand exchange hairpin primers that give high allelic discrimination |
EP3289102A1 (en) * | 2015-04-30 | 2018-03-07 | Medical College of Wisconsin, Inc. | Multiplexed optimized mismatch amplification (moma)-real time pcr for assessing cell-free dna |
-
2017
- 2017-04-29 WO PCT/US2017/030292 patent/WO2017190105A1/en unknown
- 2017-04-29 EA EA201892490A patent/EA201892490A1/en unknown
- 2017-04-29 MX MX2018013261A patent/MX2018013261A/en unknown
- 2017-04-29 US US16/097,422 patent/US20190153525A1/en not_active Abandoned
- 2017-04-29 EP EP17790614.6A patent/EP3449018A4/en not_active Withdrawn
- 2017-04-29 JP JP2018556973A patent/JP2019514387A/en active Pending
- 2017-04-29 CN CN201780040662.3A patent/CN109661476A/en active Pending
- 2017-04-29 CA CA3022548A patent/CA3022548A1/en not_active Abandoned
- 2017-04-29 AU AU2017258800A patent/AU2017258800A1/en not_active Abandoned
- 2017-04-29 BR BR112018072197A patent/BR112018072197A2/en not_active IP Right Cessation
-
2018
- 2018-10-28 IL IL262641A patent/IL262641A/en unknown
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